UniProtKB - Q00604 (NDP_HUMAN)
Protein
Norrin
Gene
NDP
Organism
Homo sapiens (Human)
Status
Functioni
Activates the canonical Wnt signaling pathway through FZD4 and LRP5 coreceptor. Plays a central role in retinal vascularization by acting as a ligand for FZD4 that signals via stabilizing beta-catenin (CTNNB1) and activating LEF/TCF-mediated transcriptional programs. Acts in concert with TSPAN12 to activate FZD4 independently of the Wnt-dependent activation of FZD4, suggesting the existence of a Wnt-independent signaling that also promote accumulation the beta-catenin (CTNNB1). May be involved in a pathway that regulates neural cell differentiation and proliferation. Possible role in neuroectodermal cell-cell interaction.
GO - Molecular functioni
- cytokine activity Source: BHF-UCL
- frizzled binding Source: BHF-UCL
- protein homodimerization activity Source: BHF-UCL
GO - Biological processi
- extracellular matrix-cell signaling Source: Ensembl
- nervous system development Source: ProtInc
- Norrin signaling pathway Source: BHF-UCL
- placenta development Source: Ensembl
- positive regulation of DNA-binding transcription factor activity Source: Ensembl
- positive regulation of transcription, DNA-templated Source: BHF-UCL
- retina vasculature morphogenesis in camera-type eye Source: Ensembl
- vacuole organization Source: ProtInc
- visual perception Source: ProtInc
- Wnt signaling pathway Source: UniProtKB-KW
Keywordsi
Biological process | Sensory transduction, Vision, Wnt signaling pathway |
Enzyme and pathway databases
PathwayCommonsi | Q00604 |
SIGNORi | Q00604 |
Names & Taxonomyi
Protein namesi | Recommended name: NorrinAlternative name(s): Norrie disease protein X-linked exudative vitreoretinopathy 2 protein |
Gene namesi | Name:NDP Synonyms:EVR2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:7678, NDP |
MIMi | 300658, gene |
neXtProti | NX_Q00604 |
VEuPathDBi | HostDB:ENSG00000124479.8 |
Subcellular locationi
Extracellular region or secreted
- Secreted 1 Publication
Extracellular region or secreted
- collagen-containing extracellular matrix Source: BHF-UCL
- extracellular matrix Source: GO_Central
- extracellular space Source: BHF-UCL
Other locations
- cell surface Source: BHF-UCL
Keywords - Cellular componenti
SecretedPathology & Biotechi
Involvement in diseasei
Norrie disease (ND)28 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionRecessive disorder characterized by very early childhood blindness due to degenerative and proliferative changes of the neuroretina. Approximately 50% of patients show some form of progressive mental disorder, often with psychotic features, and about one-third of patients develop sensorineural deafness in the second decade. In addition, some patients have more complex phenotypes, including growth failure and seizure.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_005478 | 13 | L → R in ND. 1 PublicationCorresponds to variant dbSNP:rs104894879EnsemblClinVar. | 1 | |
Natural variantiVAR_016048 | 16 | L → P in ND. 1 Publication | 1 | |
Natural variantiVAR_063999 | 38 | R → C in ND and EVR2. 2 PublicationsCorresponds to variant dbSNP:rs758550101Ensembl. | 1 | |
Natural variantiVAR_005479 | 39 | C → R in ND. 2 Publications | 1 | |
Natural variantiVAR_064001 | 43 | H → Q in ND. 1 Publication | 1 | |
Natural variantiVAR_064002 | 43 | H → R in ND. 1 Publication | 1 | |
Natural variantiVAR_005482 | 44 | Y → C in ND. 2 PublicationsCorresponds to variant dbSNP:rs104894870EnsemblClinVar. | 1 | |
Natural variantiVAR_064003 | 45 | V → E in ND. 1 PublicationCorresponds to variant dbSNP:rs137852221EnsemblClinVar. | 1 | |
Natural variantiVAR_064004 | 45 | V → M in ND. 1 Publication | 1 | |
Natural variantiVAR_064006 | 55 | C → R in ND. 1 Publication | 1 | |
Natural variantiVAR_005483 | 58 | K → N in ND and EVR2. 2 Publications | 1 | |
Natural variantiVAR_005484 | 60 | V → E in ND; reduction of protein amount in the extracellular matrix. 2 PublicationsCorresponds to variant dbSNP:rs104894869EnsemblClinVar. | 1 | |
Natural variantiVAR_005485 | 61 | L → F in ND. 2 PublicationsCorresponds to variant dbSNP:rs104894880EnsemblClinVar. | 1 | |
Natural variantiVAR_005486 | 61 | L → P in ND. 1 Publication | 1 | |
Natural variantiVAR_005487 | 63 | A → D in ND. 1 Publication | 1 | |
Natural variantiVAR_005490 | 65 | C → W in ND. 1 Publication | 1 | |
Natural variantiVAR_005488 | 65 | C → Y in ND. 2 PublicationsCorresponds to variant dbSNP:rs1369490553Ensembl. | 1 | |
Natural variantiVAR_064008 | 67 | G → E in ND. 1 PublicationCorresponds to variant dbSNP:rs1460859456Ensembl. | 1 | |
Natural variantiVAR_064009 | 67 | G → R in ND. 1 Publication | 1 | |
Natural variantiVAR_005489 | 69 | C → S in ND. 1 PublicationCorresponds to variant dbSNP:rs104894872EnsemblClinVar. | 1 | |
Natural variantiVAR_005491 | 74 | R → C in ND. 3 PublicationsCorresponds to variant dbSNP:rs727504031EnsemblClinVar. | 1 | |
Natural variantiVAR_005492 | 75 | S → C in ND. 1 PublicationCorresponds to variant dbSNP:rs104894868EnsemblClinVar. | 1 | |
Natural variantiVAR_016049 | 75 | S → P in ND. 1 Publication | 1 | |
Natural variantiVAR_064010 | 89 | F → L in ND. 1 PublicationCorresponds to variant dbSNP:rs1057520333EnsemblClinVar. | 1 | |
Natural variantiVAR_064011 | 90 | R → C in ND. 1 PublicationCorresponds to variant dbSNP:rs1057518793EnsemblClinVar. | 1 | |
Natural variantiVAR_005494 | 90 | R → P in ND. 1 PublicationCorresponds to variant dbSNP:rs104894867EnsemblClinVar. | 1 | |
Natural variantiVAR_064012 | 92 | S → P in ND. 1 Publication | 1 | |
Natural variantiVAR_005495 | 94 – 96 | HCC → QCGL in ND. | 3 | |
Natural variantiVAR_064013 | 95 | C → F in ND. 1 Publication | 1 | |
Natural variantiVAR_064014 | 95 | C → R in ND. 1 Publication | 1 | |
Natural variantiVAR_009275 | 96 | C → W in ND. 1 PublicationCorresponds to variant dbSNP:rs104894877EnsemblClinVar. | 1 | |
Natural variantiVAR_005496 | 96 | C → Y in ND. 3 PublicationsCorresponds to variant dbSNP:rs104894871EnsemblClinVar. | 1 | |
Natural variantiVAR_064015 | 97 | R → P in ND. 1 Publication | 1 | |
Natural variantiVAR_064016 | 98 | P → L in ND. 1 Publication | 1 | |
Natural variantiVAR_005497 | 101 | S → F in ND. 1 PublicationCorresponds to variant dbSNP:rs104894883EnsemblClinVar. | 1 | |
Natural variantiVAR_064018 | 104 | K → N in ND. 1 Publication | 1 | |
Natural variantiVAR_005498 | 104 | K → Q in ND. 1 Publication | 1 | |
Natural variantiVAR_016050 | 105 | A → T in ND. 1 PublicationCorresponds to variant dbSNP:rs104894875EnsemblClinVar. | 1 | |
Natural variantiVAR_016051 | 110 | C → G in ND. 1 PublicationCorresponds to variant dbSNP:rs104894876EnsemblClinVar. | 1 | |
Natural variantiVAR_064020 | 110 | C → R in ND. 1 Publication | 1 | |
Natural variantiVAR_064021 | 112 | G → E in ND. 1 Publication | 1 | |
Natural variantiVAR_064023 | 118 | A → D in ND. 1 Publication | 1 | |
Natural variantiVAR_005503 | 121 – 123 | Missing in ND. 1 Publication | 3 | |
Natural variantiVAR_005501 | 121 | R → Q in EVR2 and ND; reduced amount of protein in the extracellular matrix. 4 Publications | 1 | |
Natural variantiVAR_005502 | 121 | R → W in ND and EVR2. 2 PublicationsCorresponds to variant dbSNP:rs104894878EnsemblClinVar. | 1 | |
Natural variantiVAR_005504 | 123 | I → N in ND. 1 Publication | 1 | |
Natural variantiVAR_064025 | 126 | C → S in ND. 1 Publication | 1 | |
Natural variantiVAR_064026 | 128 | C → R in ND. 1 Publication | 1 |
Vitreoretinopathy, exudative 2 (EVR2)7 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_063998 | 18 | I → K in EVR2; the patient presented significant phenotypic heterogeneity between the two eyes. 1 Publication | 1 | |
Natural variantiVAR_063999 | 38 | R → C in ND and EVR2. 2 PublicationsCorresponds to variant dbSNP:rs758550101Ensembl. | 1 | |
Natural variantiVAR_005480 | 41 | R → K in EVR2. 1 Publication | 1 | |
Natural variantiVAR_005481 | 42 | H → R in EVR2. 2 PublicationsCorresponds to variant dbSNP:rs104894874EnsemblClinVar. | 1 | |
Natural variantiVAR_064005 | 54 | K → N in EVR2. 1 Publication | 1 | |
Natural variantiVAR_005483 | 58 | K → N in ND and EVR2. 2 Publications | 1 | |
Natural variantiVAR_064007 | 61 | L → I in EVR2. 1 Publication | 1 | |
Natural variantiVAR_064017 | 103 | L → V in EVR2. 1 Publication | 1 | |
Natural variantiVAR_064022 | 115 | R → L in EVR2. 1 Publication | 1 | |
Natural variantiVAR_005499 | 120 | Y → C in EVR2. 1 Publication | 1 | |
Natural variantiVAR_005500 | 121 | R → G in EVR2. | 1 | |
Natural variantiVAR_064024 | 121 | R → L in EVR2. 1 PublicationCorresponds to variant dbSNP:rs137852220EnsemblClinVar. | 1 | |
Natural variantiVAR_005501 | 121 | R → Q in EVR2 and ND; reduced amount of protein in the extracellular matrix. 4 Publications | 1 | |
Natural variantiVAR_005502 | 121 | R → W in ND and EVR2. 2 PublicationsCorresponds to variant dbSNP:rs104894878EnsemblClinVar. | 1 | |
Natural variantiVAR_005505 | 124 | L → F in EVR2. 1 PublicationCorresponds to variant dbSNP:rs28933684EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 95 | C → A: Impairs oligomerization. 1 Publication | 1 |
Keywords - Diseasei
Deafness, Disease variantOrganism-specific databases
DisGeNETi | 4693 |
GeneReviewsi | NDP |
MalaCardsi | NDP |
MIMi | 305390, phenotype 310600, phenotype |
OpenTargetsi | ENSG00000124479 |
Orphaneti | 190, Coats disease 891, Familial exudative vitreoretinopathy 649, Norrie disease 91495, Persistent hyperplastic primary vitreous 90050, Retinopathy of prematurity |
PharmGKBi | PA31481 |
Miscellaneous databases
Pharosi | Q00604, Tbio |
Genetic variation databases
BioMutai | NDP |
DMDMi | 548342 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 24 | Sequence analysisAdd BLAST | 24 | |
ChainiPRO_0000021794 | 25 – 133 | NorrinAdd BLAST | 109 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 39 ↔ 96 | 1 Publication | ||
Disulfide bondi | 55 ↔ 110 | 1 Publication | ||
Disulfide bondi | 65 ↔ 126 | 1 Publication | ||
Disulfide bondi | 69 ↔ 128 | 1 Publication | ||
Disulfide bondi | 93 | Interchain (with C-95)1 Publication | ||
Disulfide bondi | 95 | Interchain (with C-93)1 Publication | ||
Disulfide bondi | 131 | Interchain1 Publication |
Keywords - PTMi
Disulfide bondProteomic databases
MassIVEi | Q00604 |
PaxDbi | Q00604 |
PeptideAtlasi | Q00604 |
PRIDEi | Q00604 |
ProteomicsDBi | 57861 |
PTM databases
iPTMneti | Q00604 |
PhosphoSitePlusi | Q00604 |
Expressioni
Tissue specificityi
Expressed in the outer nuclear, inner nuclear and ganglion cell layers of the retina, and in fetal and adult brain.1 Publication
Gene expression databases
Bgeei | ENSG00000124479, Expressed in decidua and 153 other tissues |
Genevisiblei | Q00604, HS |
Organism-specific databases
HPAi | ENSG00000124479, Tissue enhanced (ovary) |
Interactioni
Subunit structurei
Homodimer; disulfide-linked.
Component of a complex, at least composed of TSPAN12, FZD4, LRP5/6 and norrin (NDP). Binds FZD4 with high affinity.
Interacts with LRP6 (via Beta-propellers 1 and 2).
1 PublicationBinary interactionsi
Q00604
With | #Exp. | IntAct |
---|---|---|
FZD4 [Q9ULV1] | 4 | EBI-2466352,EBI-2466380 |
GO - Molecular functioni
- cytokine activity Source: BHF-UCL
- frizzled binding Source: BHF-UCL
- protein homodimerization activity Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 110773, 27 interactors |
CORUMi | Q00604 |
IntActi | Q00604, 4 interactors |
STRINGi | 9606.ENSP00000367301 |
Miscellaneous databases
RNActi | Q00604, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q00604 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 39 – 132 | CTCKPROSITE-ProRule annotationAdd BLAST | 94 |
Keywords - Domaini
SignalPhylogenomic databases
eggNOGi | KOG1216, Eukaryota |
GeneTreei | ENSGT00390000004304 |
HOGENOMi | CLU_153977_0_0_1 |
InParanoidi | Q00604 |
OMAi | DPGRCMR |
OrthoDBi | 1589857at2759 |
PhylomeDBi | Q00604 |
Family and domain databases
Gene3Di | 2.10.90.10, 1 hit |
InterProi | View protein in InterPro IPR006207, Cys_knot_C IPR029034, Cystine-knot_cytokine IPR006208, Glyco_hormone_CN IPR003064, Norrie_dis |
PANTHERi | PTHR28611, PTHR28611, 1 hit |
Pfami | View protein in Pfam PF00007, Cys_knot, 1 hit |
PRINTSi | PR01304, NORRIEDSEASE |
SMARTi | View protein in SMART SM00041, CT, 1 hit |
PROSITEi | View protein in PROSITE PS01185, CTCK_1, 1 hit PS01225, CTCK_2, 1 hit |
i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
Q00604-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MRKHVLAASF SMLSLLVIMG DTDSKTDSSF IMDSDPRRCM RHHYVDSISH
60 70 80 90 100
PLYKCSSKMV LLARCEGHCS QASRSEPLVS FSTVLKQPFR SSCHCCRPQT
110 120 130
SKLKALRLRC SGGMRLTATY RYILSCHCEE CNS
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_005478 | 13 | L → R in ND. 1 PublicationCorresponds to variant dbSNP:rs104894879EnsemblClinVar. | 1 | |
Natural variantiVAR_016048 | 16 | L → P in ND. 1 Publication | 1 | |
Natural variantiVAR_063998 | 18 | I → K in EVR2; the patient presented significant phenotypic heterogeneity between the two eyes. 1 Publication | 1 | |
Natural variantiVAR_034137 | 23 | D → E. Corresponds to variant dbSNP:rs5952410EnsemblClinVar. | 1 | |
Natural variantiVAR_063999 | 38 | R → C in ND and EVR2. 2 PublicationsCorresponds to variant dbSNP:rs758550101Ensembl. | 1 | |
Natural variantiVAR_005479 | 39 | C → R in ND. 2 Publications | 1 | |
Natural variantiVAR_005480 | 41 | R → K in EVR2. 1 Publication | 1 | |
Natural variantiVAR_064000 | 41 | R → S in persistent fetal vasculature syndrome. 1 Publication | 1 | |
Natural variantiVAR_005481 | 42 | H → R in EVR2. 2 PublicationsCorresponds to variant dbSNP:rs104894874EnsemblClinVar. | 1 | |
Natural variantiVAR_064001 | 43 | H → Q in ND. 1 Publication | 1 | |
Natural variantiVAR_064002 | 43 | H → R in ND. 1 Publication | 1 | |
Natural variantiVAR_005482 | 44 | Y → C in ND. 2 PublicationsCorresponds to variant dbSNP:rs104894870EnsemblClinVar. | 1 | |
Natural variantiVAR_064003 | 45 | V → E in ND. 1 PublicationCorresponds to variant dbSNP:rs137852221EnsemblClinVar. | 1 | |
Natural variantiVAR_064004 | 45 | V → M in ND. 1 Publication | 1 | |
Natural variantiVAR_064005 | 54 | K → N in EVR2. 1 Publication | 1 | |
Natural variantiVAR_064006 | 55 | C → R in ND. 1 Publication | 1 | |
Natural variantiVAR_005483 | 58 | K → N in ND and EVR2. 2 Publications | 1 | |
Natural variantiVAR_005484 | 60 | V → E in ND; reduction of protein amount in the extracellular matrix. 2 PublicationsCorresponds to variant dbSNP:rs104894869EnsemblClinVar. | 1 | |
Natural variantiVAR_005485 | 61 | L → F in ND. 2 PublicationsCorresponds to variant dbSNP:rs104894880EnsemblClinVar. | 1 | |
Natural variantiVAR_064007 | 61 | L → I in EVR2. 1 Publication | 1 | |
Natural variantiVAR_005486 | 61 | L → P in ND. 1 Publication | 1 | |
Natural variantiVAR_005487 | 63 | A → D in ND. 1 Publication | 1 | |
Natural variantiVAR_005490 | 65 | C → W in ND. 1 Publication | 1 | |
Natural variantiVAR_005488 | 65 | C → Y in ND. 2 PublicationsCorresponds to variant dbSNP:rs1369490553Ensembl. | 1 | |
Natural variantiVAR_064008 | 67 | G → E in ND. 1 PublicationCorresponds to variant dbSNP:rs1460859456Ensembl. | 1 | |
Natural variantiVAR_064009 | 67 | G → R in ND. 1 Publication | 1 | |
Natural variantiVAR_005489 | 69 | C → S in ND. 1 PublicationCorresponds to variant dbSNP:rs104894872EnsemblClinVar. | 1 | |
Natural variantiVAR_005491 | 74 | R → C in ND. 3 PublicationsCorresponds to variant dbSNP:rs727504031EnsemblClinVar. | 1 | |
Natural variantiVAR_005492 | 75 | S → C in ND. 1 PublicationCorresponds to variant dbSNP:rs104894868EnsemblClinVar. | 1 | |
Natural variantiVAR_016049 | 75 | S → P in ND. 1 Publication | 1 | |
Natural variantiVAR_064010 | 89 | F → L in ND. 1 PublicationCorresponds to variant dbSNP:rs1057520333EnsemblClinVar. | 1 | |
Natural variantiVAR_064011 | 90 | R → C in ND. 1 PublicationCorresponds to variant dbSNP:rs1057518793EnsemblClinVar. | 1 | |
Natural variantiVAR_005494 | 90 | R → P in ND. 1 PublicationCorresponds to variant dbSNP:rs104894867EnsemblClinVar. | 1 | |
Natural variantiVAR_064012 | 92 | S → P in ND. 1 Publication | 1 | |
Natural variantiVAR_005495 | 94 – 96 | HCC → QCGL in ND. | 3 | |
Natural variantiVAR_064013 | 95 | C → F in ND. 1 Publication | 1 | |
Natural variantiVAR_064014 | 95 | C → R in ND. 1 Publication | 1 | |
Natural variantiVAR_009275 | 96 | C → W in ND. 1 PublicationCorresponds to variant dbSNP:rs104894877EnsemblClinVar. | 1 | |
Natural variantiVAR_005496 | 96 | C → Y in ND. 3 PublicationsCorresponds to variant dbSNP:rs104894871EnsemblClinVar. | 1 | |
Natural variantiVAR_064015 | 97 | R → P in ND. 1 Publication | 1 | |
Natural variantiVAR_064016 | 98 | P → L in ND. 1 Publication | 1 | |
Natural variantiVAR_005497 | 101 | S → F in ND. 1 PublicationCorresponds to variant dbSNP:rs104894883EnsemblClinVar. | 1 | |
Natural variantiVAR_064017 | 103 | L → V in EVR2. 1 Publication | 1 | |
Natural variantiVAR_064018 | 104 | K → N in ND. 1 Publication | 1 | |
Natural variantiVAR_005498 | 104 | K → Q in ND. 1 Publication | 1 | |
Natural variantiVAR_016050 | 105 | A → T in ND. 1 PublicationCorresponds to variant dbSNP:rs104894875EnsemblClinVar. | 1 | |
Natural variantiVAR_064019 | 108 | L → P in retinopathy of prematurity. 1 Publication | 1 | |
Natural variantiVAR_016051 | 110 | C → G in ND. 1 PublicationCorresponds to variant dbSNP:rs104894876EnsemblClinVar. | 1 | |
Natural variantiVAR_064020 | 110 | C → R in ND. 1 Publication | 1 | |
Natural variantiVAR_064021 | 112 | G → E in ND. 1 Publication | 1 | |
Natural variantiVAR_064022 | 115 | R → L in EVR2. 1 Publication | 1 | |
Natural variantiVAR_064023 | 118 | A → D in ND. 1 Publication | 1 | |
Natural variantiVAR_005499 | 120 | Y → C in EVR2. 1 Publication | 1 | |
Natural variantiVAR_005503 | 121 – 123 | Missing in ND. 1 Publication | 3 | |
Natural variantiVAR_005500 | 121 | R → G in EVR2. | 1 | |
Natural variantiVAR_064024 | 121 | R → L in EVR2. 1 PublicationCorresponds to variant dbSNP:rs137852220EnsemblClinVar. | 1 | |
Natural variantiVAR_005501 | 121 | R → Q in EVR2 and ND; reduced amount of protein in the extracellular matrix. 4 Publications | 1 | |
Natural variantiVAR_005502 | 121 | R → W in ND and EVR2. 2 PublicationsCorresponds to variant dbSNP:rs104894878EnsemblClinVar. | 1 | |
Natural variantiVAR_005504 | 123 | I → N in ND. 1 Publication | 1 | |
Natural variantiVAR_005505 | 124 | L → F in EVR2. 1 PublicationCorresponds to variant dbSNP:rs28933684EnsemblClinVar. | 1 | |
Natural variantiVAR_064025 | 126 | C → S in ND. 1 Publication | 1 | |
Natural variantiVAR_064026 | 128 | C → R in ND. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X65724 mRNA Translation: CAA46639.1 X65882 mRNA Translation: CAA46713.1 AL034370 Genomic DNA No translation available. AK313409 mRNA Translation: BAG36203.1 BC029901 mRNA Translation: AAH29901.1 |
CCDSi | CCDS14262.1 |
PIRi | A57005 |
RefSeqi | NP_000257.1, NM_000266.3 |
Genome annotation databases
Ensembli | ENST00000642620; ENSP00000495972; ENSG00000124479 ENST00000647044; ENSP00000495811; ENSG00000124479 |
GeneIDi | 4693 |
KEGGi | hsa:4693 |
UCSCi | uc004dga.5, human |
Similar proteinsi
Cross-referencesi
Web resourcesi
Mutations of the NDP gene Retina International's Scientific Newsletter |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X65724 mRNA Translation: CAA46639.1 X65882 mRNA Translation: CAA46713.1 AL034370 Genomic DNA No translation available. AK313409 mRNA Translation: BAG36203.1 BC029901 mRNA Translation: AAH29901.1 |
CCDSi | CCDS14262.1 |
PIRi | A57005 |
RefSeqi | NP_000257.1, NM_000266.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4MY2 | X-ray | 2.40 | A | 30-133 | [»] | |
5BPU | X-ray | 2.40 | A/B/C/D/E/F | 25-133 | [»] | |
5BQ8 | X-ray | 2.00 | A/B/C/D | 25-133 | [»] | |
5BQB | X-ray | 2.30 | A/B/C/D | 25-133 | [»] | |
5BQC | X-ray | 3.00 | A | 25-133 | [»] | |
5BQE | X-ray | 2.30 | A/B | 25-133 | [»] | |
5CL1 | X-ray | 3.80 | A/B | 31-133 | [»] | |
SMRi | Q00604 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 110773, 27 interactors |
CORUMi | Q00604 |
IntActi | Q00604, 4 interactors |
STRINGi | 9606.ENSP00000367301 |
PTM databases
iPTMneti | Q00604 |
PhosphoSitePlusi | Q00604 |
Genetic variation databases
BioMutai | NDP |
DMDMi | 548342 |
Proteomic databases
MassIVEi | Q00604 |
PaxDbi | Q00604 |
PeptideAtlasi | Q00604 |
PRIDEi | Q00604 |
ProteomicsDBi | 57861 |
Protocols and materials databases
Antibodypediai | 514, 167 antibodies |
DNASUi | 4693 |
Genome annotation databases
Ensembli | ENST00000642620; ENSP00000495972; ENSG00000124479 ENST00000647044; ENSP00000495811; ENSG00000124479 |
GeneIDi | 4693 |
KEGGi | hsa:4693 |
UCSCi | uc004dga.5, human |
Organism-specific databases
CTDi | 4693 |
DisGeNETi | 4693 |
GeneCardsi | NDP |
GeneReviewsi | NDP |
HGNCi | HGNC:7678, NDP |
HPAi | ENSG00000124479, Tissue enhanced (ovary) |
MalaCardsi | NDP |
MIMi | 300658, gene 305390, phenotype 310600, phenotype |
neXtProti | NX_Q00604 |
OpenTargetsi | ENSG00000124479 |
Orphaneti | 190, Coats disease 891, Familial exudative vitreoretinopathy 649, Norrie disease 91495, Persistent hyperplastic primary vitreous 90050, Retinopathy of prematurity |
PharmGKBi | PA31481 |
VEuPathDBi | HostDB:ENSG00000124479.8 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1216, Eukaryota |
GeneTreei | ENSGT00390000004304 |
HOGENOMi | CLU_153977_0_0_1 |
InParanoidi | Q00604 |
OMAi | DPGRCMR |
OrthoDBi | 1589857at2759 |
PhylomeDBi | Q00604 |
Enzyme and pathway databases
PathwayCommonsi | Q00604 |
SIGNORi | Q00604 |
Miscellaneous databases
BioGRID-ORCSi | 4693, 6 hits in 503 CRISPR screens |
ChiTaRSi | NDP, human |
GeneWikii | Norrin |
GenomeRNAii | 4693 |
Pharosi | Q00604, Tbio |
PROi | PR:Q00604 |
RNActi | Q00604, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000124479, Expressed in decidua and 153 other tissues |
Genevisiblei | Q00604, HS |
Family and domain databases
Gene3Di | 2.10.90.10, 1 hit |
InterProi | View protein in InterPro IPR006207, Cys_knot_C IPR029034, Cystine-knot_cytokine IPR006208, Glyco_hormone_CN IPR003064, Norrie_dis |
PANTHERi | PTHR28611, PTHR28611, 1 hit |
Pfami | View protein in Pfam PF00007, Cys_knot, 1 hit |
PRINTSi | PR01304, NORRIEDSEASE |
SMARTi | View protein in SMART SM00041, CT, 1 hit |
PROSITEi | View protein in PROSITE PS01185, CTCK_1, 1 hit PS01225, CTCK_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | NDP_HUMAN | |
Accessioni | Q00604Primary (citable) accession number: Q00604 Secondary accession number(s): B2R8K6, Q5JYH5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 1, 1994 |
Last sequence update: | June 1, 1994 | |
Last modified: | February 10, 2021 | |
This is version 181 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references